Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings-Reference-Cited by-同舟云学术

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Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings

Published:2021-04-19 Issue: Volume: Page:
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Cadieux‐Dion Maxime¹,Gannon Jennifer²³,Newell Brandon⁴³,Nopper Amy Jo⁴³,Jenkins Janda²³,Heese Bryce²³,Saunders Carol¹³⁵^ORCID

Affiliation:

1. Department of Pathology and Laboratory Medicine Children’s Mercy Hospital Kansas City MO USA

2. Division of Clinical Genetics Department of Pediatrics Children’s Mercy Hospital Kansas City MO USA

3. University of Missouri‐Kansas City School of Medicine Kansas City MO USA

4. Division of Dermatology Department of Pediatrics Children’s Mercy Hospital Kansas City MO USA

5. Center for Pediatric Genomic Medicine Children’s Mercy Hospital Kansas City MO USA

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14586

Reference13 articles.

1. Severe neonatal holocarboxylase synthetase deficiency in west african siblings;De Castro M;JIMD Rep,2015

2. Holocarboxylase synthetase deficiency: novel clinical and molecular findings

3. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.

4. Holocarboxylase synthetase deficiency pre and post newborn screening

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1. Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency;Orphanet Journal of Rare Diseases;2023-03-08

2. Holocarboxylase Synthetase Deficiency;Genetic Syndromes;2023

3. Successful treatment with secukinumab of psoriasis‐like dermatitis in a patient with holocarboxylase synthetase deficiency;The Journal of Dermatology;2022-11-07

4. Multiple drugs;Reactions Weekly;2021-10

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